| http://purl.uniprot.org/citations/11001938 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11001938 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11001938 | http://www.w3.org/2000/01/rdf-schema#comment | "Limb girdle muscular dystrophy is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive or dominant mode. Caveolin-3, the muscle-specific member of the caveolin gene family, is implicated in the pathogenesis of autosomal dominant limb girdle muscular dystrophy 1C. Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. The novel sporadic missense mutation in the caveolin signature sequence of the caveolin-3 gene changes an alanine to a threonine (A46T) and prevents the localization of caveolin-3 to the plasma membrane in a dominant negative fashion. Caveolin-3 has been suggested to interact with the dystrophin-glycoprotein complex, which in striated muscle fibers links the cytoskeleton to the extracellular matrix and with neuronal nitric oxide synthase. Similar to dystrophin-deficient Duchenne muscular dystrophy, a secondary decrease in neuronal nitric oxide synthase and alpha-dystroglycan expression was detected in the caveolin-3-deficient patient. These results implicate an important function of the caveolin signature sequence and common mechanisms in the pathogenesis of dystrophin-glycoprotein complex-associated muscular dystrophies with caveolin-3-deficient limb girdle muscular dystrophy."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.org/dc/terms/identifier | "doi:10.1093/oxfordjournals.hmg.a018926"xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.org/dc/terms/identifier | "doi:10.1093/oxfordjournals.hmg.a018926"xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Herrmann R."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Herrmann R."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Kroger S."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Kroger S."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Straub V."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Straub V."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Blank M."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Blank M."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Franke N."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Franke N."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Jacob E.N."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Jacob E.N."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Kutzick C."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Kutzick C."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Lenard H.-G."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/author | "Lenard H.-G."xsd:string |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/11001938 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |